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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 11-47259824-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47259824&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 47259824,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005693.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.77A>G",
"hgvs_p": "p.Gln26Arg",
"transcript": "NM_005693.4",
"protein_id": "NP_005684.2",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 447,
"cds_start": 77,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 1852,
"mane_select": "ENST00000441012.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.77A>G",
"hgvs_p": "p.Gln26Arg",
"transcript": "ENST00000441012.7",
"protein_id": "ENSP00000387946.2",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 447,
"cds_start": 77,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 1852,
"mane_select": "NM_005693.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Gln32Arg",
"transcript": "ENST00000616973.4",
"protein_id": "ENSP00000477707.1",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 453,
"cds_start": 95,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.77A>G",
"hgvs_p": "p.Gln26Arg",
"transcript": "ENST00000467728.5",
"protein_id": "ENSP00000420656.1",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 447,
"cds_start": 77,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.77A>G",
"hgvs_p": "p.Gln26Arg",
"transcript": "ENST00000405853.7",
"protein_id": "ENSP00000384745.3",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 387,
"cds_start": 77,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 1480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "n.316A>G",
"hgvs_p": null,
"transcript": "ENST00000527464.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.-59A>G",
"hgvs_p": null,
"transcript": "ENST00000395397.7",
"protein_id": "ENSP00000378793.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 402,
"cds_start": -4,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Gln32Arg",
"transcript": "NM_001251934.2",
"protein_id": "NP_001238863.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 453,
"cds_start": 95,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Gln32Arg",
"transcript": "NM_001251935.2",
"protein_id": "NP_001238864.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 453,
"cds_start": 95,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.77A>G",
"hgvs_p": "p.Gln26Arg",
"transcript": "NM_001130101.3",
"protein_id": "NP_001123573.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 387,
"cds_start": 77,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.77A>G",
"hgvs_p": "p.Gln26Arg",
"transcript": "ENST00000407404.5",
"protein_id": "ENSP00000385801.1",
"transcript_support_level": 5,
"aa_start": 26,
"aa_end": null,
"aa_length": 387,
"cds_start": 77,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 158,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.77A>G",
"hgvs_p": "p.Gln26Arg",
"transcript": "ENST00000436029.5",
"protein_id": "ENSP00000403696.1",
"transcript_support_level": 5,
"aa_start": 26,
"aa_end": null,
"aa_length": 211,
"cds_start": 77,
"cds_end": null,
"cds_length": 636,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.77A>G",
"hgvs_p": "p.Gln26Arg",
"transcript": "ENST00000449369.5",
"protein_id": "ENSP00000415591.1",
"transcript_support_level": 5,
"aa_start": 26,
"aa_end": null,
"aa_length": 204,
"cds_start": 77,
"cds_end": null,
"cds_length": 615,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.77A>G",
"hgvs_p": "p.Gln26Arg",
"transcript": "ENST00000436778.5",
"protein_id": "ENSP00000403798.1",
"transcript_support_level": 3,
"aa_start": 26,
"aa_end": null,
"aa_length": 201,
"cds_start": 77,
"cds_end": null,
"cds_length": 606,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.77A>G",
"hgvs_p": "p.Gln26Arg",
"transcript": "ENST00000444396.5",
"protein_id": "ENSP00000391005.1",
"transcript_support_level": 3,
"aa_start": 26,
"aa_end": null,
"aa_length": 192,
"cds_start": 77,
"cds_end": null,
"cds_length": 581,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.77A>G",
"hgvs_p": "p.Gln26Arg",
"transcript": "ENST00000457932.5",
"protein_id": "ENSP00000413095.1",
"transcript_support_level": 5,
"aa_start": 26,
"aa_end": null,
"aa_length": 76,
"cds_start": 77,
"cds_end": null,
"cds_length": 232,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.77A>G",
"hgvs_p": "p.Gln26Arg",
"transcript": "ENST00000437276.1",
"protein_id": "ENSP00000396132.1",
"transcript_support_level": 3,
"aa_start": 26,
"aa_end": null,
"aa_length": 67,
"cds_start": 77,
"cds_end": null,
"cds_length": 205,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.77A>G",
"hgvs_p": "p.Gln26Arg",
"transcript": "XM_005252706.2",
"protein_id": "XP_005252763.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 447,
"cds_start": 77,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.77A>G",
"hgvs_p": "p.Gln26Arg",
"transcript": "XM_011519805.3",
"protein_id": "XP_011518107.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 447,
"cds_start": 77,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 1823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.77A>G",
"hgvs_p": "p.Gln26Arg",
"transcript": "XM_047426194.1",
"protein_id": "XP_047282150.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 447,
"cds_start": 77,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 2902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.77A>G",
"hgvs_p": "p.Gln26Arg",
"transcript": "XM_047426195.1",
"protein_id": "XP_047282151.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 447,
"cds_start": 77,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.77A>G",
"hgvs_p": "p.Gln26Arg",
"transcript": "XM_047426200.1",
"protein_id": "XP_047282156.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 387,
"cds_start": 77,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 2722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "n.82A>G",
"hgvs_p": null,
"transcript": "ENST00000420369.5",
"protein_id": "ENSP00000406692.1",
"transcript_support_level": 3,
"aa_start": null,
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},
{
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},
{
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},
{
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"protein_coding": true,
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],
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},
{
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"strand": true,
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"intron_variant"
],
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"gene_symbol": "NR1H3",
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},
{
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],
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},
{
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"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "NR1H3",
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"transcript": "ENST00000419652.5",
"protein_id": "ENSP00000407716.1",
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}
],
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"dbsnp": "rs765178299",
"frequency_reference_population": 0.000004962139,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000479449,
"gnomad_genomes_af": 0.0000065703,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08512574434280396,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.035,
"revel_prediction": "Benign",
"alphamissense_score": 0.0634,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.356,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2_Supporting",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_005693.4",
"gene_symbol": "NR1H3",
"hgnc_id": 7966,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.77A>G",
"hgvs_p": "p.Gln26Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}